Message from the INPDA President
February 28 is Rare Disease Day, a day to celebrate all the rare disease community has accomplished and to highlight the road ahead, both the opportunities and the challenges.
2021 was a year that saw a many challenges for the Niemann-Pick Disease community and it can be difficult at times not to get distressed by the obstacles we have encountered. The outcome of the FDA reviews for two potential therapies for NPC were very disappointing and the INPDA is working with the community, clinicians, and researchers to better understand the concerns of the FDA and to identify strategies to address these concerns in a manner that will lead to timely routes forward in drug development and approval for a disease that is as rare and variable as NPC.
The community continues to persevere however and there are positives we need to remember. Despite travel restrictions related to the pandemic we successfully held our INPDA face to face meeting for 2021 using a virtual platform. We are looking forward to an in person INPDA face to face meeting in Orlando Florida July 30-August 1 2022. There are two therapeutic agents (one for NPC and one for ASMD) currently under review by the EMA and several therapeutic agents for NPC remain in clinical trial. There are clinical trials still ongoing and ongoing research to better understand Niemann Pick Disease (both NPC and ASMD) and to identify novel therapeutic targets. The community continues to grow stronger with advocacy and disease awareness being high on the list of activities for many of our members this past year.
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We still have a lot of work to do as we continue on our path forward and I wish to take this opportunity to thank all of those who are working so diligently to support our progress. In this newsletter you will find updates from members of the INPDA regarding what is happening in their country along with updates form some of the pharmaceutical companies working in the field of Niemann Pick Disease. Thank you for all you do, I know it feels like we are climbing a mountain but every journey starts with a single step and you all are taking those steps every day. |
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Niemann-Pick Canada
Niemann-Pick Canada is proud to continue to support NPC research grants at The Hospital for Sick Children in Toronto, the University of Michigan, and at the University of Notre Dame. We are excited to share a very recent publication in Nature Biotechnology sharing our NPC research funded at The Hospital for Sick Children titled “Saturation Variant Interpretation Using CRISPR Prime Editing”. In this publication, 1000 NPC variants were functionally scored and interpreted. We hope this research can help us further understand the broad phenotypic presentation of NPC patients and provide additional clinical insight to support timelines for treatment intervention.
Please follow us on Facebook, Twitter, Instagram, and LinkedIn.
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Niemann-Pick Selbthilfegruppe
Happily our last family conference was held in person in October 2021.
The board of the German Niemann-Pick Selbsthilfegruppe e.V. was newly elected:
President - Philine Mötsch
Vice President - Sara Ströer
Treasurer - Dorothea Seifert
Extending Board / Assessor - Pia Appel & Alexander Kaiser
We thank the previous board of directors for their great dedication and commitment. Our next family conference will be held online on April 30th.
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17th Hochheim Vineyard Run - Not only the sun shone during the run through the beautiful vineyards of Hochheim, but also the runners around the team of SphinCS had every reason happy and jubilant to cross the the finish line. They completed a great run, for our Niemann-Pick community and raised awareness for the disease. |
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Italian Niemann-Pick Association
Please join us online for a rare disease conference on February 28. In this online conference we decided to talk about accessibility and what this means for rare patients, especially in these 2 years of Covid-19. Accessibility to local services, hospital services, information, accessibility to regulations on rare diseases, accessibility to new remote services. The testimony of those who have experienced all this firsthand cannot be missing, not only to emphasize the critical issues, but above all to build together a better model of care.
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With a view to collaboration between groups of associations, the conference of this 15th edition of the World Day of Rare Diseases is organized by the A-Rare Forum, a group of rare disease associations in Piedmont and Valle d'Aosta, in collaboration with the University of Turin and the Interregional Coordination Center for rare diseases. The Italian Niemann-Pick Association is the spokesperson for the A-Rare Forum and actively collaborates with local institutions to obtain the rights of rare patients in our area and manages the listening desk dedicated to rare patients and their families. We increasingly believe that rare disease associations should collaborate in order to attract the attention of citizens and health policy to our issues because... Many few make many! (This is an Italian phrase that means many people, even if they are few, if you put them together, they become many!) Click here for the event on rarediseaseday.org.
The National University Library organizes a meeting to present the XV Rare Diseases World Day in Turin and dedicates a space to two exceptional realities operating in the sector: UNIAMO Italian Federation of Rare Diseases and the Military Pharmaceutical Chemical Institute.
Speakers:
Guglielmo Bartoletti - Director of the National University Library of Turin
General Franco Cravarezza - President of the Friends of the Library Association and of the Permanent Council of Weapons Associations of Turin
Annalisa Scopinaro, President of UNIAMO (video message)
Annalisa Bisconti, Niemann Pick Association contact person and spokesperson for Forum A-RARE
Colonel Antonio Medica - Director of the Military Pharmaceutical Chemical Institute
1st lieutenant. Camillo Borzacchiello - Head of Pharmaceutical Distribution and Rare Diseases Project
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Niemann-Pick Foundation
of Spain
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Another year has just begun, and as always when a new year starts, the challenges and goals of the Niemann-Pick Foundation in Spain are renewed.
In this newsletter we are going to explain the latest events and acts that we have prepared and attended since October until today, and the objectives we are working on for the coming months.
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October was Niemann-Pick disease awareness month. All countries join forces to make society aware of the disease and commit to the families and organizations that seek to find a cure and offer a better quality of life for those affected. Throughout this month, we carried out and participated in different awareness- raising actions. |
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On October 16th, we also held the 14th edition of the Toledo Night Race for the benefit of the Foundation, with 4,000 runners, which was a resounding success in terms of participation. We took advantage of the event to publicize and raise awareness about Niemann-Pick in the month of October.
In November, we attended the 1st Congress held by the patient association ASMD Spain in Madrid. There, we were able to listen to professionals who spoke about the latest news about ASMD, historically known as Niemann-Pick type B. We exchanged words of collaboration with its president, and we were able to greet specialist doctors who are part of our medical committee, such as Dr. Villarrubia or Dr. Ledesma... READ COMPLETE UPDATE
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Switzerland is too small for a special RDD event. We leave it to ProRaris which is coming to our GA on March 12th.
We will compensate with our Loire Valley Meeting 2022 (LVM) which will take place on October 22nd and 23rd in France. LVM is an international event organized by NPSuisse on behalf of INPDA and financed by NPSuisse and SHG Germany. It is a unique scientific meeting restricted to discuss fundamental, translational and clinical research in an informal atmosphere with a view to outlining potential directions of future research activities. Invited in France are only a small number of scientists. However this year we intend to invite interested parties in NP-C anywhere in the world to follow the meeting via streaming. Registrations will be organized in due time.
Christoph Poincilit
President of NPSuisse
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Niemann-Pick UK
Over the last year we have been very busy with our latest short film, Invisible Manners, which was released in mid-December 2021. Invisible Manners is a short animated film, developed closely with the Niemann-Pick community, and the wider rare disease network. It all started in 2019 at the NPUK Annual Family Conference, when the NPUK team held a meeting with Niemann-Pick community families (both UK and International) to discuss how to raise further awareness of ASMD NP-B, a type of Niemann-Pick disease which some would consider an “invisible illness”, and as such is often overlooked or misunderstood by the wider society. Inspired by Rare Disease Day and the Rare Film Festival, we chose to look at the effects of rare diseases and invisible conditions more broadly, as we felt that the experiences and emotions of these different conditions are often similar.
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Sadly delays occurred due to COVID-19, which required the plans for the film to take a different form. After a number of focus groups and discussions via Zoom it was decided that the development of the film should still go ahead, but could instead be produced remotely, using a mixture of voiceover and animation, with members of the community sending in recordings of their lines, which would later be edited together. The animation was created by artist and animator Lingxi Zhang and took on an experimental style mixing animation and real footage in a diary/scrapbook style, which was agreed was the best way to illustrate the thoughts, experiences, and challenges of life with an invisible condition. |
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This drawing is by NPUK community member Kelsie Beveridge (NPC), which Kelsie drew at the NPUK Reunion Lunch in 2021. This incredible drawing is used at the end of Invisible Manners, to illustrate the huge impact small acts of kindness can have on others. |
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The animation ran alongside a poem, written by Communications and Campaigns Manager, John Lee Taggart, which succinctly drew together the experiences and feedback from the community. Alongside voices from the Niemann-Pick diseases and rare disease community, lines from the poem were read by a few famous voices who lent their support to the campaign. Billy Boyd (The Lord of the Rings, Outlander) and Isy Suttie (Peep Show, Man Down) featured in the poem, and Weruche Opia (I May Destroy You, Bad Education) read the epilogue, which provides extra information about “Invisible conditions” and the work Niemann-Pick UK does. To have such a show of support on a small, charity production was npuk shopa huge accolade for Niemann-Pick UK, with the hope it would lead to sparking the interest of people who may not know little about rare diseases, never mind Niemann-Pick disease! You can support the Invisible Manners campaign by viewing the film here and sharing it with others via social media. |
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Alongside working on Invisible Manners, and the subsequent promotion of the film, the NPUK team have been very busy with lots of new projects. We launched our NPUK Shop in September, after a few delays. The shop is a great way to both represent and support NPUK, and we have a really fantastic range of products that our community have already got their support behind. Managing the shop is our new Fundraising Officer, Jenny Charman, who was already a huge part of the NPUK community as an NPUK Co-opted Trustee and through the work she does with Harvey and the Brave Little Soldiers, so was the ideal candidate for this role. Jenny is involved in supporting the vision and purpose of NPUK by aiding with the collection of essential funds, as well as providing help and support to the fantastic fundraisers in our community. Jenny has been working hard in her new role, and recently wrote the very first Fundraising Update, a seasonal round-up of all of the incredible fundraisers taking place across our community. |
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The artwork here is by NPUK community member, James Keeble (ASMD NPB). This piece depicts the emotions and struggles those with an invisible or rare disease can face. James is an extremely talented artist, and some of this work was a part of his A-Level Art portfolio. The work also inspired much of Invisible Manners, and as the bottom image shows, James’ work featured in the film itself. |
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We are looking forward to what 2022 will bring, and we hope that, wherever you are, this year will be a positive and bright for everyone in the wider Niemann-Pick Community, fingers crossed we can all re-unite in-person soon. |
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National Niemann-Pick
Disease Foundation
Since October, NNPDF has actively been fulfilling its mission of advocating on behalf of the Niemann-Pick community in the US, providing family services and programs to our community at all stages of the Niemann-Pick journey, and supporting research in a meaningful way.
Over the past year, we have engaged with the US Food and Drug Administration (FDA) through two Listening Sessions, discussions, and most recently a public workshop on NPC Endpoints with the Duke Margolis Center for Heath and the FDA. Ongoing follow-up is planned and family statements from this event can be found here.
An ASMD pediatric study is currently underway. By participating, families have the opportunity to input into the decision making process by contributing to global research that demonstrates the impact of ASMD and facilitates the evaluation of therapies now and in the future. At this critical time for our community, participation will help us to understand and communicate the patient’s perspective of ASMD, its impact on that person and their family plus their views and experience of current and future treatments. It will help us to advocate for access to new and existing treatments in the US and around the world and provide evidence to support further research.
At the federal level, NNDPF is working on preparation needed for submission of request to add ASMD to Recommended Uniform Screening Panel (RUSP) to add ASMD to the list of diseases included in newborn screening across the country. And at the state level, NNPDF continues to support Rare Disease Advisory Councils (RDACs) across the U.S. RDACs give rare disease community members a unified voice in state government and provide a valuable resource to elected officials on rare disease education and challenges. Currently, only 21 states have RDACs. NNPDF has recently signed on to RDAC in the state of Mississippi. Read the letter and learn more about this issue.
We are pleased to launch the Joele Ruppert and Joseph Colton ASMD Scholarship which provides scholarship funding one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions. The scholarship was created by Evren Ayik, at that time a graduating high school senior, when he was awarded the Sanofi Genzyme TORCH Award for his work in advocacy for individuals and families affected by ASMD. Learn more or apply here.
NNPDF is now accepting Research Fellowship Applications. The Peter G. Penchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease. Niemann-Pick Disease research is one of the pillars of our mission and we are proud that since 1993, NNPDF has funded 52 grants and 20 fellowships totaling over $4,000,000. Our fellowships and grants have contributed to the identification of disease-causing genes, insights into the pathogenesis of NPC1 & NPC2, support of the NPC cat model at a critical juncture, and development of an assay for newborn screening. Many former grantees and fellows have remained active contributors in the Niemann-Pick Disease space. Learn more, or apply here.
NNPDF continues to support the AllStripes sibling study in Niemann-Pick type C. The study will support efforts to include NPC among conditions recommended for newborn screening. This study is looking for 40 sibling pairs with NPC in the US, Canada, and UK. Families can contribute medical records on behalf of a loved one who has passed away and create a meaningful legacy by providing valuable information to improve the lives of patients and their families for generations to come.
Sixteen NNPDF Community member families had help in making their holidays a little brighter thanks to an anonymous special donor. A special donor family wished to help ease the burden of Holiday stress, knowing that living with NPD can be difficult. NNPDF was able to assist with over 150 items for families, creating a memorable holiday season for our families.
Finally, we eager to see all our international friends and families at the NNPDF & INPDA Conferences this July 2022 in Orlando, Florida! We have wonderful events planned and a top-notch line up of speakers.
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Community Spotlight
Special Interview with Jackie Imrie
This month we have a special interview with Jackie Imrie. Though already well known globally by many families, physicians and scientist in our NPD community, we thought it would be nice to have Jackie share how she got started working with the NPD community and share some of her experiences over the past 22 years.
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Tell us about yourself and how you got involved with NPD?
Having started an Open University Degree in Biochemistry and Biology when my children were young. In 1993 I was lucky to find a part time job working in the Metabolic Clinic in Manchester. This gave me the opportunity to meet many families with many metabolic diseases but also to visit the labs to increase my understanding for my degree. In the clinic I met Susan and Jim Green and Roy as well as other families with NPD.
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Tell us what your work looked like when you first started in this field?
There were about 40 patients with NPC and a handful with Type B and only one with NPA. Enzyme replacement trial had just started for Gaucher disease and was happening in our clinic under the watchful eye of Dr. Ed Wraith (Dr. Ed to most patients). We occasionally saw NPD patients. In 1999 the Niemann-Pick Disease Group UK advertised for their first Support Nurse to work specifically with NPDs and I was lucky to get the post. This was funded by Children in Need who have been very supportive ever since.
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Jackie Imrie when she first began working with Niemann-Pick families. |
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From that point I visited families at home as well as in schools and hospitals locally. We developed and published the first UK natural History for NPC. (2006 and republished 2012) In December 1999 I also wrote to all families with Type B to say we had now got enzyme. But for NPD, as a whole it was “sorry there is no treatment” and for those children who sadly were showing symptoms we could only say go home and make memories.
What does it look like today?
Massive developments in knowledge and clinical trials led to many new drugs emerging, getting through trials and for NPC Miglustat is licensed in many countries. Type B, now renamed ASMD has a clinical trial nearing its end with hopefully approval in the not too distant future. (22 years after I wrote that first letter) Many centres in the UK have Niemann-Pick clinics so families can come on the same day, are able to have all their investigations and meet other families. INPDA was developed so that support groups Worldwide could work together, share recourses, and support each other. INPDR, the vision of Jim Green, was then developed following a meeting in 2009 with professionals from many countries. INPDR has input now from clinicians and patients in 5 continents.
What have been some of the greatest challenges over the years?
- Supporting families through the relentless course of these diseases and just being there when needed.
- Keeping up to date with the ever-increasing research - for a “little known” disease (amongst laymen and sadly, a lot of doctors) there is an amazing amount of interest from scientists and researchers worldwide.
- Dealing with bureaucracy in healthcare, education, social care and housing to name but a few areas.
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What have been some of the greatest rewards from your job?
Working with NPUK and being part of the amazing work as we brought our families officer on board and developed the staff team into what it is now. Meeting families not only from the UK, but from all over the World often at their local conferences. Being able to learn from them and bring that back to the UK. Keeping in touch with so many parents worldwide who are now, true friends and not just on Facebook. Being able to share my experiences with not only families but professionals and scientists and being allowed to present at many conferences. Not only does this give me the opportunity to share, but also very importantly to raise awareness of NPDs.
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Are there government resources that support your work?
Unfortunately, not. Children in Need, the Big Lottery and other grant agencies are vital to support this post and others which make NPUK what it is today.
Are there currently gaps in services being provided or do you see any emerging?
Resources are always a big problem and NPUK and the team are forever fighting in the community to get for our families what they need and deserve whether that be benefits, appropriate housing and education or social support. As new therapies emerge, we will need to fight to ensure that all eligible patients get the drug. COVID has had a massive impact on healthcare and the team are now fighting to get back to some normality and get those patients seen face to face again which is vital.
Do you have anything else they would like to share with us?
I “retired” from the post of Clinical Nurse Specialist at the end of 2011, but it was a while before a successor was recruited and supported to be able to continue the work I had done that far. Laura has and is still doing a great job. I obviously stayed around as a trustee with NPUK, worked with INPDA and I’m now back as an employee leading Recruitment for the International Registry.
All my family have benefited from my work with NPDs. My daughter attended her first conference in the UK when she was 13. She has been a volunteer at several USA conferences. Her daughter was only 6 weeks when she came to her first conference and her brother only a few months. Age 14 and 9 they are great at helping with fundraising too. My son has helped with sound and lighting at meetings in the past. The Niemann-Pick family is a part of all of us.
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Therapeutic Updates
Research and clinical trials are currently in progress to study and develop treatments for ASMD and NPC. Click the links below for individual updates.
Cyclo Therapeutics:
Message from Lise Kjems, MD, Chief Medical Officer at Cyclo Therapeutics: Having recently returned from the WORLDSymposium™, I am energized by the discussions and progress across lysosomal storage disorders, and particularly for the Niemann-Pick community... READ MORE
IntraBio Inc.:
Pivotal Clinical Trial: Based on the robust evidence from the IB1001-201 Phase II clinical trial (NCT03759639) demonstrating IB1001’s positive effect on symptoms, functioning, and quality of life for pediatric and adult patients with NPC (Bremova et al. 2021), IntraBio... READ MORE
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Multi-language Resource
As we all continue to navigate challenges related to Covid-19, we thought this may be a helpful resource. Public Health England has provided Covid-19 Updates in several different languages. If you consider this a helpful resource for you and your organization, please feel free to share this link.
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Who We are
The International Niemann-Pick Disease Alliance (INPDA) is a global network of non-profit organizations working in the field of Niemann-Pick disease (NPD). The alliance was formed in 2009 to provide a forum for patient groups and professionals working in the field of NPD.
In the 1990s, when a person was diagnosed with NPD they were told they would never meet anyone else affected, as the conditions are so rare. But people directly impacted by the disease – patients themselves, their family members and friends – began setting up support groups, connecting families and drawing in impassioned and dedicated people to fight their corner, determined that no family diagnosed with NPD should face the future alone.
Today, we have an international network of non-profit groups, supporting hundreds of families, and we continue to grow. By joining together through the INPDA, we give Niemann-Pick diseases a stronger global voice, and progress towards effective treatments for these conditions is accelerated.
Our Aims
The INPDA’s overall mission is to relieve sickness and distress among families affected by Niemann-Pick Diseases worldwide.
We will achieve this by sharing expertise, knowledge and skills across our network, providing mutual support between patient groups, improving information and awareness of NPD, and stimulating research.
Our network enables connections, bringing together people who can make a difference for this group of devastating rare conditions.
For more information on what we’re doing to achieve these aims, see Our Work.
INPDA Executive Committee
President: Sandy Cowie (Canada)
Vice President: Joslyn Crowe (USA)
Executive Secretary: Toni Mathieson (UK)
Executive Communications Officer: Lisa Chavez (USA)
The INPDA would like to thank all of those who contributed to this newsletter. If you would like to include an update in the June 2022 edition, please forward your update to Lisa Chavez at lisa.chavez@inpda.org by May 15, 2022.
For a complete list of all INPDA members please click here.
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International Niemann-Pick Disease Alliance |
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DISCLAIMER: The National Niemann-Pick Disease Foundation (NNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. The NNPDF web site is an educational service of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on our web site does not constitute medical advice. For all information related to care, medication or treatment, the NNPDF recommends consulting a physician to determine if information presented is applicable
This newsletter is a service of the National Niemann-Pick Disease Foundation's Family Services Program, made possible by the financial support of our member families and other generous donors and grantors. The NNPDF receives no government funding, nor does it host or receive funding from advertising or from the display of commercial content.
The National Niemann-Pick Disease Foundation is a 501(c)(3) organization. Your donations are fully tax-deductible.
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